DISEASES

Disease-gene associations mined from literature

GABRB1 disease associations

GABRB1 [ENSP00000295454]

Gamma-aminobutyric acid receptor subunit beta-1; Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand-gated chloride channel.

Synonyms:  GABRB1,  GABRB1p,  hGABRB1,  D6REM0,  P18505 ...

Linkouts:  STRING  Pharos  UniProt  OMIM